De novo 15q13.3 microdeletion with cryptogenic west syndrome
Article first published online: 8 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 10, pages 2582–2587, October 2013
How to Cite
2013. De novo 15q13.3 microdeletion with cryptogenic West syndrome. Am J Med Genet Part A 161A:2582–2587., , , , , , , , , , .
- Issue published online: 17 SEP 2013
- Article first published online: 8 AUG 2013
- Manuscript Accepted: 20 MAY 2013
- Manuscript Received: 27 SEP 2012
- West syndrome;
- 15q13.3 microdeletion
West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental arrest. West syndrome is heterogenous, caused by mutations of genes ARX, STXBP1, KCNT1 among others; 16p13.11 and 17q21.31 microdeletions are less frequent, usually associated with intellectual disability and facial dysmorphism. So-called “idiopathic” West syndrome is of better prognostic, without prior intellectual deficiency and usually responsive to anti-epileptic treatment. We report on a boy falling within the scope of idiopathic West syndrome, with no dysmorphic features and normal development before the beginning of West syndrome, with a good resolution after treatment, bearing a de novo 15q13.3 microdeletion. Six genes are located in the deleted region, including CHRNA7, which encodes a subunit of a nicotinic acetylcholine receptor, and is frequently associated with epilepsy. Exploration of the 15q13.3 region should be proposed in idiopathic West syndrome. © 2013 Wiley Periodicals, Inc.